H19N (p.His19Asn) variant of PSTPIP1 (O43586)
H19N (p.His19Asn) in PSTPIP1 (O43586) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
H19N (p.His19Asn) variant details
- p.His19Asn
- gnomAD 15-77018166-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.563
- MetaLR 0.02
- MetaSVM -0.95
- CADD 21.50
- PolyPhen-2 0.07
- SIFT 0.50
- Population evidence available
- Structural context available
- PSTPIP1 SH3 domain domainome 1.0: score -0.391
- Literature evidence available